Associated Papers
Renal and Extrarenal Phenotypes in Patients With HNF1B Variants and Chromosome 17q12 Microdeletions.
Buffin-Meyer B et al.
Kidney International Reports, 2024
39156164 (PubMed )
Supplement: mmc1.pdf
Antenatal hydronephrosis: Key sign for the diagnostic of a familial genetic disease.
Alarcón-Alacio MT et al.
Anales De Pediatria, 2021
Maturity-onset diabetes of the young type 5 a MULTISYSTEMIC disease: a CASE report of a novel mutation in the HNF1B gene and literature review.
Mateus JC et al.
Clinical Diabetes and Endocrinology, 2020
32864159 (PubMed )
Supplement: 40842_2020_103_MOESM1_ESM.docx
Identifying Pathogenic Variants of Monogenic Diabetes Using Targeted Panel Sequencing in an East Asian Population.
Park SS et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.
Heidet L et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
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